Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity

J Biol Chem. 2002 Sep 27;277(39):36793-8. doi: 10.1074/jbc.M206559200. Epub 2002 Jul 26.

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive paralytic disorder resulting from the degeneration of motor neurons in the cerebral cortex, brainstem, and spinal cord. The cytopathological hallmark in the remaining motor neurons of ALS is the presence of ubiquitylated inclusions consisting of insoluble protein aggregates. In this paper we report that Dorfin, a RING finger-type E3 ubiquitin ligase, is predominantly localized in the inclusion bodies of familial ALS with a copper/zinc superoxide dismutase (SOD1) mutation as well as sporadic ALS. Dorfin physically bound and ubiquitylated various SOD1 mutants derived from familial ALS patients and enhanced their degradation, but it had no effect on the stability of the wild-type SOD1. The overexpression of Dorfin protected against the toxic effects of mutant SOD1 on neural cells and reduced SOD1 inclusions. Our results indicate that Dorfin protects neurons by recognizing and then ubiquitylating mutant SOD1 proteins followed by targeting them for proteasomal degradation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cell Line
  • DNA, Complementary / metabolism
  • DNA-Binding Proteins / metabolism
  • DNA-Binding Proteins / physiology*
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Mutation*
  • Neurons / metabolism*
  • Plasmids / metabolism
  • Protein Structure, Tertiary
  • Spinal Cord
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase / metabolism*
  • Superoxide Dismutase-1
  • Time Factors
  • Transfection
  • Ubiquitin / metabolism*
  • Ubiquitin-Protein Ligases

Substances

  • DNA, Complementary
  • DNA-Binding Proteins
  • SOD1 protein, human
  • Ubiquitin
  • Superoxide Dismutase
  • Superoxide Dismutase-1
  • RNF19A protein, human
  • Ubiquitin-Protein Ligases